Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
DDX51_chr12_132131594_132149319	132141611	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp1 HG02630.hp2 HG03041.hp2 others(2): Show HG02258.hp1 HG02630.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2	a0003 a0020 a0003 a0020	a0003c0006 a0020c0033 a0003c0006 a0020c0033	a0003c0006t0006 a0020c0033t0006 a0003c0006t0006 a0020c0033t0006	a0003c0006t0006g0020 a0003c0006t0006g0088 a0020c0033t0006g0089 a0003c0006t0006g0020 a0003c0006t0006g0088 a0020c0033t0006g0089	5	334	0.0150	0	c.996 others(5): Show c.996-5T>C		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding	6/14				chr12	TogoVar
DDX52_chr17_37604739_37648446	37626866	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0235 a0002c0002t0014g0235	1	411	0.0024	0	c.860 others(5): Show c.860-6C>G		DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding	6/14				chr17	TogoVar
DDX52_chr17_37604739_37648446	37632105	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02970.hp1 HG03516.hp2 others(1): Show HG02258.hp2 HG02970.hp1 HG03516.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0015 a0002c0007t0015 a0002c0002t0015 a0002c0007t0015	a0002c0002t0015g0020 a0002c0002t0015g0049 a0002c0007t0015g0048 a0002c0002t0015g0020 a0002c0002t0015g0049 a0002c0007t0015g0048	4	411	0.0097	0	c.603 others(5): Show c.603+8T>G		DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding	4/14				chr17	TogoVar
DDX52_chr17_37604739_37648446	37643330	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00323.hp2 HG00438.hp2 others(159): Show HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01243.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18988.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19080.hp2 NA19084.hp2 NA19086.hp1 NA19087.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0003 a0002c0002 a0002c0008 others(4): Show a0001c0003 a0002c0002 a0002c0008 a0002c0012 a0003c0004 a0005c0011 a0006c0009	a0001c0003t0047 a0002c0002t0001 a0002c0002t0004 others(45): Show a0001c0003t0047 a0002c0002t0001 a0002c0002t0004 a0002c0002t0008 a0002c0002t0009 a0002c0002t0011 a0002c0002t0014 a0002c0002t0016 a0002c0002t0019 a0002c0002t0020 a0002c0002t0021 a0002c0002t0023 a0002c0002t0027 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0032 a0002c0002t0036 a0002c0002t0039 a0002c0002t0043 a0002c0002t0044 a0002c0002t0045 a0002c0002t0046 a0002c0002t0048 a0002c0002t0050 a0002c0002t0051 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0056 a0002c0002t0057 a0002c0002t0058 a0002c0002t0060 a0002c0002t0063 a0002c0002t0064 a0002c0002t0065 a0002c0002t0066 a0002c0002t0067 a0002c0002t0069 a0002c0002t0070 a0002c0002t0091 a0002c0002t0094 a0002c0008t0004 a0002c0012t0004 a0003c0004t0019 a0005c0011t0004 a0006c0009t0049	a0001c0003t0047g0198 a0002c0002t0001g0004 a0002c0002t0001g0008 others(106): Show a0001c0003t0047g0198 a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0206 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0211 a0002c0002t0001g0213 a0002c0002t0001g0215 a0002c0002t0001g0218 a0002c0002t0001g0222 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0242 a0002c0002t0004g0002 a0002c0002t0004g0043 a0002c0002t0004g0251 a0002c0002t0004g0252 a0002c0002t0004g0254 a0002c0002t0004g0256 a0002c0002t0004g0261 a0002c0002t0004g0268 a0002c0002t0004g0269 a0002c0002t0004g0271 a0002c0002t0004g0278 a0002c0002t0004g0279 a0002c0002t0008g0005 a0002c0002t0008g0244 a0002c0002t0008g0245 a0002c0002t0008g0247 a0002c0002t0009g0202 a0002c0002t0009g0214 a0002c0002t0009g0219 a0002c0002t0009g0225 a0002c0002t0009g0228 a0002c0002t0011g0013 a0002c0002t0011g0044 a0002c0002t0011g0267 a0002c0002t0011g0276 a0002c0002t0014g0235 a0002c0002t0014g0258 a0002c0002t0014g0259 a0002c0002t0014g0266 a0002c0002t0014g0273 a0002c0002t0014g0280 a0002c0002t0016g0241 a0002c0002t0019g0246 a0002c0002t0020g0041 a0002c0002t0020g0239 a0002c0002t0021g0253 a0002c0002t0021g0255 a0002c0002t0021g0260 a0002c0002t0023g0205 a0002c0002t0027g0195 a0002c0002t0027g0197 a0002c0002t0028g0193 a0002c0002t0028g0194 a0002c0002t0029g0191 a0002c0002t0029g0192 a0002c0002t0030g0257 a0002c0002t0030g0277 a0002c0002t0032g0216 a0002c0002t0032g0224 a0002c0002t0036g0240 a0002c0002t0039g0262 a0002c0002t0043g0196 a0002c0002t0044g0238 a0002c0002t0045g0272 a0002c0002t0046g0199 a0002c0002t0048g0201 a0002c0002t0050g0243 a0002c0002t0051g0237 a0002c0002t0052g0236 a0002c0002t0053g0248 a0002c0002t0054g0249 a0002c0002t0055g0283 a0002c0002t0056g0274 a0002c0002t0057g0281 a0002c0002t0058g0263 a0002c0002t0060g0265 a0002c0002t0063g0223 a0002c0002t0064g0210 a0002c0002t0065g0212 a0002c0002t0066g0200 a0002c0002t0067g0220 a0002c0002t0069g0207 a0002c0002t0070g0221 a0002c0002t0091g0275 a0002c0002t0094g0217 a0002c0008t0004g0264 a0002c0012t0004g0282 a0003c0004t0019g0042 a0005c0011t0004g0270 a0006c0009t0049g0250	162	411	0.3942	0	c.87+ others(4): Show c.87+4C>T		DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding	1/14				chr17	TogoVar
DDX54_chr12_113152173_113190478	113163277	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0046 a0002c0002t0002g0046	1	306	0.0033	0	c.193 others(6): Show c.1939-3C>A		DDX54	ENSG00000123064.13	transcript	ENST00000306014.10	protein_coding	15/19				chr12	TogoVar
DDX54_chr12_113152173_113190478	113164283	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0015 a0001c0019t0015	a0001c0019t0015g0108 a0001c0019t0015g0108	1	306	0.0033	0	c.172 others(4): Show c.1722T>C	p.Thr others(6): Show p.Thr574Thr	DDX54	ENSG00000123064.13	transcript	ENST00000306014.10	protein_coding	15/20	1749/4377	1722/2646	574/881	chr12	TogoVar
DDX54_chr12_113152173_113190478	113174776	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp2 HG03195.hp2 HG03486.hp1 HG02717.hp2 HG03195.hp2 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0023 a0002c0004t0005g0070 a0002c0004t0005g0023 a0002c0004t0005g0070	3	306	0.0098	0	c.937 others(5): Show c.937-5C>T		DDX54	ENSG00000123064.13	transcript	ENST00000306014.10	protein_coding	9/19				chr12	TogoVar
DDX54_chr12_113152173_113190478	113180926	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	306	0.0033	0	c.304 others(5): Show c.304+3G>A		DDX54	ENSG00000123064.13	transcript	ENST00000306014.10	protein_coding	2/19				chr12	TogoVar
DDX56_chr7_44560804_44578908	44572748	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(331): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0002c0004 a0003c0007 a0004c0016 a0005c0010 a0006c0015	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0009t0001 a0001c0011t0001 a0001c0013t0001 a0001c0014t0001 a0002c0004t0001 a0003c0007t0001 a0004c0016t0001 a0005c0010t0001 a0006c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(55): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0002g0020 a0001c0002t0002g0067 a0001c0002t0002g0069 a0001c0003t0001g0025 a0001c0003t0001g0031 a0001c0005t0001g0009 a0001c0005t0001g0033 a0001c0006t0001g0017 a0001c0008t0001g0027 a0001c0009t0001g0042 a0001c0011t0001g0045 a0001c0013t0001g0044 a0001c0014t0001g0058 a0002c0004t0001g0006 a0002c0004t0001g0054 a0003c0007t0001g0019 a0004c0016t0001g0068 a0005c0010t0001g0043 a0006c0015t0001g0063	334	406	0.8227	0	c.384 others(5): Show c.384-4C>G		DDX56	ENSG00000136271.11	transcript	ENST00000258772.10	protein_coding	3/13				chr7	TogoVar
DDX59_chr1_200639037_200674907	200649230	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	390	0.0026	0	c.131 others(6): Show c.1315-4T>G		DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	5/7				chr1	TogoVar
DDX59_chr1_200639037_200674907	200669761	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02735.hp1 HG03688.hp2 HG02735.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0221 a0001c0001t0003g0222	2	390	0.0051	0	c.-12 others(5): Show c.-12+6C>A		DDX59	ENSG00000118197.14	transcript	ENST00000331314.11	protein_coding	1/7				chr1	TogoVar
DDX60L_chr4_168351735_168485492	168371608	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(217): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(45): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0022 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0037 a0038 a0039 a0040 a0041 a0042 a0044 a0045 a0046 a0047 a0048 a0050 a0051 a0053 a0055	a0001c0002 a0001c0016 a0001c0039 others(79): Show a0001c0002 a0001c0016 a0001c0039 a0001c0042 a0001c0064 a0001c0079 a0002c0004 a0002c0009 a0002c0018 a0002c0026 a0002c0063 a0002c0069 a0002c0089 a0003c0001 a0004c0005 a0004c0011 a0004c0019 a0004c0025 a0004c0041 a0004c0080 a0004c0087 a0005c0003 a0005c0008 a0005c0047 a0005c0049 a0006c0006 a0006c0036 a0007c0007 a0007c0020 a0008c0013 a0008c0014 a0009c0028 a0009c0029 a0009c0062 a0010c0024 a0010c0044 a0010c0072 a0011c0010 a0012c0021 a0012c0056 a0013c0034 a0013c0060 a0013c0061 a0014c0017 a0015c0022 a0015c0090 a0016c0015 a0017c0035 a0017c0058 a0018c0045 a0018c0096 a0019c0027 a0020c0023 a0022c0033 a0024c0043 a0025c0046 a0026c0040 a0027c0078 a0027c0083 a0028c0037 a0029c0038 a0030c0031 a0031c0032 a0032c0094 a0033c0093 a0034c0059 a0035c0055 a0037c0057 a0038c0092 a0039c0084 a0040c0095 a0041c0097 a0042c0065 a0044c0088 a0045c0091 a0046c0076 a0047c0075 a0048c0085 a0050c0066 a0051c0070 a0053c0068 a0055c0050	a0001c0002t0001 a0001c0002t0007 a0001c0016t0001 others(98): Show a0001c0002t0001 a0001c0002t0007 a0001c0016t0001 a0001c0016t0007 a0001c0039t0001 a0001c0042t0001 a0001c0064t0001 a0001c0079t0001 a0002c0004t0002 a0002c0004t0003 a0002c0009t0002 a0002c0009t0003 a0002c0018t0001 a0002c0018t0002 a0002c0018t0003 a0002c0026t0001 a0002c0063t0001 a0002c0069t0002 a0002c0089t0002 a0003c0001t0003 a0003c0001t0013 a0004c0005t0001 a0004c0011t0001 a0004c0011t0005 a0004c0019t0001 a0004c0025t0001 a0004c0025t0006 a0004c0041t0001 a0004c0041t0005 a0004c0080t0001 a0004c0087t0001 a0005c0003t0001 a0005c0008t0001 a0005c0047t0001 a0005c0049t0003 a0006c0006t0003 a0006c0036t0003 a0007c0007t0001 a0007c0007t0006 a0007c0020t0001 a0007c0020t0008 a0008c0013t0002 a0008c0014t0001 a0008c0014t0003 a0009c0028t0001 a0009c0029t0001 a0009c0062t0001 a0010c0024t0002 a0010c0024t0011 a0010c0044t0002 a0010c0072t0002 a0011c0010t0001 a0011c0010t0012 a0012c0021t0001 a0012c0056t0001 a0013c0034t0001 a0013c0034t0002 a0013c0060t0002 a0013c0061t0002 a0014c0017t0002 a0014c0017t0010 a0015c0022t0001 a0015c0090t0001 a0016c0015t0003 a0017c0035t0001 a0017c0058t0009 a0018c0045t0001 a0018c0045t0003 a0018c0096t0001 a0019c0027t0002 a0020c0023t0001 a0022c0033t0001 a0024c0043t0002 a0025c0046t0001 a0026c0040t0004 a0027c0078t0002 a0027c0083t0004 a0028c0037t0002 a0029c0038t0001 a0029c0038t0005 a0030c0031t0004 a0031c0032t0001 a0032c0094t0004 a0033c0093t0003 a0034c0059t0001 a0035c0055t0001 a0037c0057t0001 a0038c0092t0002 a0039c0084t0001 a0040c0095t0001 a0041c0097t0003 a0042c0065t0002 a0044c0088t0001 a0045c0091t0002 a0046c0076t0002 a0047c0075t0004 a0048c0085t0002 a0050c0066t0001 a0051c0070t0003 a0053c0068t0002 a0055c0050t0001	a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0026 others(216): Show a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0111 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0265 a0001c0002t0007g0032 a0001c0016t0001g0160 a0001c0016t0001g0222 a0001c0016t0001g0225 a0001c0016t0007g0241 a0001c0039t0001g0244 a0001c0039t0001g0261 a0001c0042t0001g0146 a0001c0042t0001g0147 a0001c0064t0001g0031 a0001c0079t0001g0152 a0002c0004t0002g0076 a0002c0004t0003g0024 a0002c0004t0003g0035 a0002c0004t0003g0036 a0002c0009t0002g0215 a0002c0009t0003g0245 a0002c0009t0003g0252 a0002c0009t0003g0262 a0002c0009t0003g0264 a0002c0018t0001g0257 a0002c0018t0002g0103 a0002c0018t0003g0066 a0002c0026t0001g0233 a0002c0026t0001g0234 a0002c0063t0001g0106 a0002c0069t0002g0239 a0002c0089t0002g0069 a0003c0001t0003g0155 a0003c0001t0003g0176 a0003c0001t0003g0181 a0003c0001t0003g0183 a0003c0001t0003g0184 a0003c0001t0003g0187 a0003c0001t0003g0194 a0003c0001t0003g0204 a0003c0001t0003g0205 a0003c0001t0003g0207 a0003c0001t0003g0209 a0003c0001t0003g0258 a0003c0001t0013g0231 a0004c0005t0001g0012 a0004c0005t0001g0013 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0057 a0004c0005t0001g0061 a0004c0005t0001g0113 a0004c0005t0001g0114 a0004c0005t0001g0115 a0004c0011t0001g0112 a0004c0011t0001g0121 a0004c0011t0001g0122 a0004c0011t0001g0161 a0004c0011t0005g0118 a0004c0019t0001g0070 a0004c0019t0001g0080 a0004c0019t0001g0253 a0004c0019t0001g0254 a0004c0025t0001g0236 a0004c0025t0001g0242 a0004c0025t0006g0248 a0004c0041t0001g0237 a0004c0041t0005g0014 a0004c0080t0001g0227 a0004c0087t0001g0235 a0005c0003t0001g0015 a0005c0003t0001g0018 a0005c0003t0001g0154 a0005c0003t0001g0162 a0005c0003t0001g0166 a0005c0003t0001g0170 a0005c0003t0001g0174 a0005c0003t0001g0177 a0005c0003t0001g0188 a0005c0003t0001g0190 a0005c0003t0001g0210 a0005c0003t0001g0228 a0005c0008t0001g0179 a0005c0008t0001g0189 a0005c0008t0001g0192 a0005c0008t0001g0201 a0005c0008t0001g0206 a0005c0008t0001g0212 a0005c0047t0001g0167 a0005c0049t0003g0202 a0006c0006t0003g0020 a0006c0006t0003g0021 a0006c0006t0003g0022 a0006c0006t0003g0133 a0006c0006t0003g0138 a0006c0006t0003g0139 a0006c0006t0003g0141 a0006c0036t0003g0132 a0007c0007t0001g0009 a0007c0007t0001g0157 a0007c0007t0001g0158 a0007c0007t0001g0175 a0007c0007t0001g0191 a0007c0007t0001g0229 a0007c0007t0006g0163 a0007c0020t0001g0173 a0007c0020t0008g0195 a0007c0020t0008g0196 a0008c0013t0002g0085 a0008c0013t0002g0086 a0008c0013t0002g0087 a0008c0013t0002g0102 a0008c0014t0001g0089 a0008c0014t0001g0091 a0008c0014t0003g0101 a0009c0028t0001g0124 a0009c0028t0001g0135 a0009c0028t0001g0137 a0009c0029t0001g0125 a0009c0029t0001g0136 a0009c0029t0001g0140 a0009c0062t0001g0230 a0010c0024t0002g0119 a0010c0024t0002g0120 a0010c0024t0011g0263 a0010c0044t0002g0072 a0010c0044t0002g0255 a0010c0072t0002g0216 a0011c0010t0001g0017 a0011c0010t0001g0156 a0011c0010t0001g0178 a0011c0010t0001g0185 a0011c0010t0012g0149 a0012c0021t0001g0083 a0012c0021t0001g0084 a0012c0021t0001g0094 a0012c0056t0001g0098 a0013c0034t0001g0090 a0013c0034t0002g0099 a0013c0060t0002g0110 a0013c0061t0002g0092 a0014c0017t0002g0074 a0014c0017t0002g0105 a0014c0017t0002g0259 a0014c0017t0010g0071 a0015c0022t0001g0033 a0015c0022t0001g0050 a0015c0022t0001g0232 a0015c0090t0001g0238 a0016c0015t0003g0148 a0016c0015t0003g0153 a0017c0035t0001g0093 a0017c0035t0001g0095 a0017c0058t0009g0266 a0018c0045t0001g0130 a0018c0045t0003g0023 a0018c0096t0001g0127 a0019c0027t0002g0005 a0019c0027t0002g0006 a0019c0027t0002g0007 a0020c0023t0001g0075 a0020c0023t0001g0077 a0020c0023t0001g0078 a0022c0033t0001g0108 a0022c0033t0001g0109 a0024c0043t0002g0008 a0024c0043t0002g0107 a0025c0046t0001g0126 a0025c0046t0001g0129 a0026c0040t0004g0064 a0026c0040t0004g0079 a0027c0078t0002g0256 a0027c0083t0004g0240 a0028c0037t0002g0217 a0028c0037t0002g0218 a0029c0038t0001g0221 a0029c0038t0005g0219 a0030c0031t0004g0117 a0030c0031t0004g0211 a0031c0032t0001g0001 a0032c0094t0004g0046 a0033c0093t0003g0045 a0034c0059t0001g0097 a0035c0055t0001g0096 a0037c0057t0001g0088 a0038c0092t0002g0067 a0039c0084t0001g0116 a0040c0095t0001g0131 a0041c0097t0003g0134 a0042c0065t0002g0214 a0044c0088t0001g0004 a0045c0091t0002g0104 a0046c0076t0002g0224 a0047c0075t0004g0223 a0048c0085t0002g0073 a0050c0066t0001g0123 a0051c0070t0003g0142 a0053c0068t0002g0220 a0055c0050t0001g0062	220	268	0.8209	0	c.492 others(6): Show c.4928+4A>G		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	36/37				chr4	TogoVar
DDX60L_chr4_168351735_168485492	168391647	A A	AG AG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG01978.hp1 HG01981.hp2 others(5): Show HG00738.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02273.hp2 HG02723.hp1 HG03540.hp2 NA18972.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0024	a0001c0002 a0002c0004 a0002c0009 others(4): Show a0001c0002 a0002c0004 a0002c0009 a0003c0001 a0005c0049 a0008c0014 a0024c0043	a0001c0002t0001 a0002c0004t0002 a0002c0009t0003 others(4): Show a0001c0002t0001 a0002c0004t0002 a0002c0009t0003 a0003c0001t0003 a0005c0049t0003 a0008c0014t0001 a0024c0043t0002	a0001c0002t0001g0054 a0002c0004t0002g0042 a0002c0009t0003g0262 others(5): Show a0001c0002t0001g0054 a0002c0004t0002g0042 a0002c0009t0003g0262 a0003c0001t0003g0176 a0003c0001t0003g0183 a0005c0049t0003g0202 a0008c0014t0001g0091 a0024c0043t0002g0008	8	268	0.0299	1	c.381 others(7): Show c.3811-4dupC		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	28/37				chr4	TogoVar
DDX60L_chr4_168351735_168485492	168391650	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(210): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18982.hp1 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(33): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0025 a0026 a0027 a0030 a0031 a0032 a0033 a0034 a0035 a0041 a0044 a0046 a0047 a0048 a0049 a0051 a0052 a0054 a0055	a0001c0002 a0001c0016 a0001c0039 others(67): Show a0001c0002 a0001c0016 a0001c0039 a0001c0042 a0001c0079 a0002c0004 a0002c0009 a0002c0018 a0002c0026 a0002c0063 a0002c0067 a0002c0069 a0002c0073 a0002c0077 a0002c0086 a0002c0089 a0002c0098 a0003c0001 a0003c0012 a0004c0005 a0004c0011 a0004c0019 a0004c0025 a0004c0041 a0004c0087 a0005c0003 a0005c0008 a0005c0047 a0006c0006 a0006c0036 a0007c0007 a0007c0020 a0008c0013 a0008c0014 a0009c0028 a0009c0029 a0009c0062 a0012c0021 a0012c0056 a0016c0015 a0017c0035 a0017c0058 a0018c0045 a0018c0096 a0020c0023 a0021c0030 a0021c0048 a0022c0033 a0023c0053 a0023c0054 a0025c0046 a0026c0040 a0027c0078 a0027c0083 a0030c0031 a0031c0032 a0032c0094 a0033c0093 a0034c0059 a0035c0055 a0041c0097 a0044c0088 a0046c0076 a0047c0075 a0048c0085 a0049c0082 a0051c0070 a0052c0071 a0054c0051 a0055c0050	a0001c0002t0001 a0001c0002t0007 a0001c0016t0001 others(87): Show a0001c0002t0001 a0001c0002t0007 a0001c0016t0001 a0001c0016t0007 a0001c0039t0001 a0001c0042t0001 a0001c0079t0001 a0002c0004t0002 a0002c0004t0003 a0002c0009t0002 a0002c0009t0003 a0002c0018t0001 a0002c0018t0002 a0002c0018t0003 a0002c0026t0001 a0002c0026t0002 a0002c0063t0001 a0002c0067t0002 a0002c0069t0002 a0002c0073t0002 a0002c0077t0002 a0002c0086t0002 a0002c0089t0002 a0002c0098t0002 a0003c0001t0002 a0003c0001t0003 a0003c0001t0013 a0003c0012t0002 a0004c0005t0001 a0004c0011t0001 a0004c0011t0005 a0004c0019t0001 a0004c0025t0001 a0004c0025t0006 a0004c0041t0001 a0004c0041t0005 a0004c0087t0001 a0005c0003t0001 a0005c0008t0001 a0005c0047t0001 a0006c0006t0002 a0006c0006t0003 a0006c0036t0002 a0006c0036t0003 a0007c0007t0001 a0007c0007t0006 a0007c0020t0001 a0007c0020t0008 a0008c0013t0002 a0008c0014t0001 a0008c0014t0002 a0008c0014t0003 a0009c0028t0001 a0009c0029t0001 a0009c0062t0001 a0012c0021t0001 a0012c0056t0001 a0016c0015t0002 a0016c0015t0003 a0017c0035t0001 a0017c0058t0009 a0018c0045t0001 a0018c0045t0003 a0018c0096t0001 a0020c0023t0001 a0021c0030t0002 a0021c0048t0002 a0022c0033t0001 a0023c0053t0002 a0023c0054t0002 a0025c0046t0001 a0026c0040t0004 a0027c0078t0002 a0027c0083t0004 a0030c0031t0004 a0031c0032t0001 a0032c0094t0004 a0033c0093t0003 a0034c0059t0001 a0035c0055t0001 a0041c0097t0003 a0044c0088t0001 a0046c0076t0002 a0047c0075t0004 a0048c0085t0002 a0049c0082t0002 a0051c0070t0003 a0052c0071t0002 a0054c0051t0002 a0055c0050t0001	a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0026 others(208): Show a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0111 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0265 a0001c0002t0007g0032 a0001c0016t0001g0160 a0001c0016t0001g0222 a0001c0016t0001g0225 a0001c0016t0007g0241 a0001c0039t0001g0244 a0001c0039t0001g0261 a0001c0042t0001g0146 a0001c0042t0001g0147 a0001c0079t0001g0152 a0002c0004t0002g0010 a0002c0004t0002g0041 a0002c0004t0002g0044 a0002c0004t0002g0047 a0002c0004t0002g0053 a0002c0004t0002g0056 a0002c0004t0002g0076 a0002c0004t0003g0024 a0002c0004t0003g0035 a0002c0004t0003g0036 a0002c0009t0002g0215 a0002c0009t0002g0246 a0002c0009t0003g0245 a0002c0009t0003g0252 a0002c0009t0003g0264 a0002c0018t0001g0257 a0002c0018t0002g0103 a0002c0018t0002g0226 a0002c0018t0003g0066 a0002c0026t0001g0233 a0002c0026t0001g0234 a0002c0026t0002g0144 a0002c0063t0001g0106 a0002c0067t0002g0029 a0002c0069t0002g0239 a0002c0073t0002g0260 a0002c0077t0002g0150 a0002c0086t0002g0068 a0002c0089t0002g0069 a0002c0098t0002g0059 a0003c0001t0002g0002 a0003c0001t0002g0016 a0003c0001t0002g0159 a0003c0001t0002g0164 a0003c0001t0002g0165 a0003c0001t0002g0169 a0003c0001t0002g0180 a0003c0001t0002g0186 a0003c0001t0002g0193 a0003c0001t0002g0203 a0003c0001t0002g0208 a0003c0001t0002g0213 a0003c0001t0003g0155 a0003c0001t0003g0181 a0003c0001t0003g0184 a0003c0001t0003g0187 a0003c0001t0003g0194 a0003c0001t0003g0204 a0003c0001t0003g0205 a0003c0001t0003g0207 a0003c0001t0003g0209 a0003c0001t0003g0258 a0003c0001t0013g0231 a0003c0012t0002g0019 a0003c0012t0002g0168 a0003c0012t0002g0171 a0003c0012t0002g0172 a0004c0005t0001g0012 a0004c0005t0001g0013 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0057 a0004c0005t0001g0061 a0004c0005t0001g0113 a0004c0005t0001g0114 a0004c0005t0001g0115 a0004c0011t0001g0112 a0004c0011t0001g0121 a0004c0011t0001g0122 a0004c0011t0001g0161 a0004c0011t0005g0118 a0004c0019t0001g0080 a0004c0019t0001g0254 a0004c0025t0001g0236 a0004c0025t0001g0242 a0004c0025t0006g0248 a0004c0041t0001g0237 a0004c0041t0005g0014 a0004c0087t0001g0235 a0005c0003t0001g0015 a0005c0003t0001g0018 a0005c0003t0001g0154 a0005c0003t0001g0162 a0005c0003t0001g0166 a0005c0003t0001g0170 a0005c0003t0001g0174 a0005c0003t0001g0177 a0005c0003t0001g0188 a0005c0003t0001g0190 a0005c0003t0001g0210 a0005c0003t0001g0228 a0005c0008t0001g0179 a0005c0008t0001g0189 a0005c0008t0001g0192 a0005c0008t0001g0201 a0005c0008t0001g0206 a0005c0008t0001g0212 a0005c0047t0001g0167 a0006c0006t0002g0128 a0006c0006t0003g0020 a0006c0006t0003g0021 a0006c0006t0003g0022 a0006c0006t0003g0133 a0006c0006t0003g0138 a0006c0006t0003g0139 a0006c0006t0003g0141 a0006c0036t0002g0060 a0006c0036t0003g0132 a0007c0007t0001g0009 a0007c0007t0001g0157 a0007c0007t0001g0158 a0007c0007t0001g0175 a0007c0007t0001g0191 a0007c0007t0001g0229 a0007c0007t0006g0163 a0007c0020t0001g0173 a0007c0020t0008g0195 a0007c0020t0008g0196 a0008c0013t0002g0085 a0008c0013t0002g0086 a0008c0013t0002g0087 a0008c0013t0002g0102 a0008c0014t0001g0089 a0008c0014t0002g0100 a0008c0014t0003g0101 a0009c0028t0001g0124 a0009c0028t0001g0135 a0009c0028t0001g0137 a0009c0029t0001g0125 a0009c0029t0001g0136 a0009c0029t0001g0140 a0009c0062t0001g0230 a0012c0021t0001g0083 a0012c0021t0001g0084 a0012c0056t0001g0098 a0016c0015t0002g0143 a0016c0015t0002g0151 a0016c0015t0003g0148 a0016c0015t0003g0153 a0017c0035t0001g0093 a0017c0035t0001g0095 a0017c0058t0009g0266 a0018c0045t0001g0130 a0018c0045t0003g0023 a0018c0096t0001g0127 a0020c0023t0001g0075 a0020c0023t0001g0077 a0020c0023t0001g0078 a0021c0030t0002g0199 a0021c0030t0002g0200 a0021c0048t0002g0182 a0022c0033t0001g0108 a0022c0033t0001g0109 a0023c0053t0002g0065 a0023c0054t0002g0081 a0025c0046t0001g0126 a0025c0046t0001g0129 a0026c0040t0004g0064 a0026c0040t0004g0079 a0027c0078t0002g0256 a0027c0083t0004g0240 a0030c0031t0004g0117 a0030c0031t0004g0211 a0031c0032t0001g0001 a0032c0094t0004g0046 a0033c0093t0003g0045 a0034c0059t0001g0097 a0035c0055t0001g0096 a0041c0097t0003g0134 a0044c0088t0001g0004 a0046c0076t0002g0224 a0047c0075t0004g0223 a0048c0085t0002g0073 a0049c0082t0002g0003 a0051c0070t0003g0142 a0052c0071t0002g0145 a0054c0051t0002g0247 a0055c0050t0001g0062	213	268	0.7948	0	c.381 others(6): Show c.3811-6T>C		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	28/37				chr4	TogoVar
DDX60L_chr4_168351735_168485492	168391651	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp1 HG02717.hp1 HG02965.hp1 others(2): Show HG02280.hp1 HG02717.hp1 HG02965.hp1 HG04228.hp2 NA21309.hp2	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0064 a0004c0019 a0004c0080 others(1): Show a0001c0064 a0004c0019 a0004c0080 a0012c0021	a0001c0064t0001 a0004c0019t0001 a0004c0080t0001 others(1): Show a0001c0064t0001 a0004c0019t0001 a0004c0080t0001 a0012c0021t0001	a0001c0064t0001g0031 a0004c0019t0001g0070 a0004c0019t0001g0253 others(2): Show a0001c0064t0001g0031 a0004c0019t0001g0070 a0004c0019t0001g0253 a0004c0080t0001g0227 a0012c0021t0001g0094	5	268	0.0187	0	c.381 others(6): Show c.3811-7T>C		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	28/37				chr4	TogoVar
DDX60L_chr4_168351735_168485492	168396128	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(113): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00597.hp2 HG00639.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03492.hp1 HG03516.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18972.hp1 NA18990.hp2 NA18992.hp2 NA18997.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp1 NA19087.hp2 NA19090.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0012 a0017 a0020 a0021 a0022 a0025 a0031 a0032 a0035 a0048 a0052 a0055	a0001c0002 a0001c0016 a0001c0039 others(36): Show a0001c0002 a0001c0016 a0001c0039 a0001c0042 a0001c0064 a0001c0079 a0002c0004 a0002c0018 a0002c0073 a0003c0012 a0004c0005 a0004c0011 a0004c0019 a0004c0025 a0004c0041 a0004c0080 a0004c0087 a0005c0003 a0005c0008 a0005c0047 a0005c0049 a0007c0007 a0008c0013 a0008c0014 a0009c0029 a0009c0062 a0012c0021 a0017c0035 a0017c0058 a0020c0023 a0021c0048 a0022c0033 a0025c0046 a0031c0032 a0032c0094 a0035c0055 a0048c0085 a0052c0071 a0055c0050	a0001c0002t0001 a0001c0002t0007 a0001c0016t0001 others(41): Show a0001c0002t0001 a0001c0002t0007 a0001c0016t0001 a0001c0039t0001 a0001c0042t0001 a0001c0064t0001 a0001c0079t0001 a0002c0004t0002 a0002c0018t0002 a0002c0073t0002 a0003c0012t0002 a0004c0005t0001 a0004c0011t0001 a0004c0011t0005 a0004c0019t0001 a0004c0025t0001 a0004c0025t0006 a0004c0041t0001 a0004c0041t0005 a0004c0080t0001 a0004c0087t0001 a0005c0003t0001 a0005c0008t0001 a0005c0047t0001 a0005c0049t0003 a0007c0007t0001 a0007c0007t0006 a0008c0013t0002 a0008c0014t0002 a0009c0029t0001 a0009c0062t0001 a0012c0021t0001 a0017c0035t0001 a0017c0058t0009 a0020c0023t0001 a0021c0048t0002 a0022c0033t0001 a0025c0046t0001 a0031c0032t0001 a0032c0094t0004 a0035c0055t0001 a0048c0085t0002 a0052c0071t0002 a0055c0050t0001	a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0026 others(112): Show a0001c0002t0001g0011 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0034 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0043 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0063 a0001c0002t0001g0111 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0265 a0001c0002t0007g0032 a0001c0016t0001g0160 a0001c0016t0001g0222 a0001c0016t0001g0225 a0001c0039t0001g0261 a0001c0042t0001g0146 a0001c0042t0001g0147 a0001c0064t0001g0031 a0001c0079t0001g0152 a0002c0004t0002g0041 a0002c0018t0002g0103 a0002c0073t0002g0260 a0003c0012t0002g0171 a0004c0005t0001g0012 a0004c0005t0001g0013 a0004c0005t0001g0051 a0004c0005t0001g0052 a0004c0005t0001g0057 a0004c0005t0001g0061 a0004c0005t0001g0113 a0004c0005t0001g0114 a0004c0005t0001g0115 a0004c0011t0001g0112 a0004c0011t0001g0121 a0004c0011t0001g0122 a0004c0011t0001g0161 a0004c0011t0005g0118 a0004c0019t0001g0070 a0004c0019t0001g0080 a0004c0019t0001g0253 a0004c0019t0001g0254 a0004c0025t0001g0236 a0004c0025t0001g0242 a0004c0025t0006g0248 a0004c0041t0001g0237 a0004c0041t0005g0014 a0004c0080t0001g0227 a0004c0087t0001g0235 a0005c0003t0001g0015 a0005c0003t0001g0018 a0005c0003t0001g0154 a0005c0003t0001g0162 a0005c0003t0001g0166 a0005c0003t0001g0170 a0005c0003t0001g0174 a0005c0003t0001g0177 a0005c0003t0001g0188 a0005c0003t0001g0190 a0005c0003t0001g0210 a0005c0003t0001g0228 a0005c0008t0001g0179 a0005c0008t0001g0201 a0005c0008t0001g0206 a0005c0008t0001g0212 a0005c0047t0001g0167 a0005c0049t0003g0202 a0007c0007t0001g0009 a0007c0007t0001g0157 a0007c0007t0001g0158 a0007c0007t0001g0175 a0007c0007t0001g0229 a0007c0007t0006g0163 a0008c0013t0002g0085 a0008c0013t0002g0086 a0008c0013t0002g0087 a0008c0013t0002g0102 a0008c0014t0002g0100 a0009c0029t0001g0125 a0009c0029t0001g0136 a0009c0029t0001g0140 a0009c0062t0001g0230 a0012c0021t0001g0083 a0012c0021t0001g0084 a0012c0021t0001g0094 a0017c0035t0001g0093 a0017c0035t0001g0095 a0017c0058t0009g0266 a0020c0023t0001g0075 a0020c0023t0001g0077 a0020c0023t0001g0078 a0021c0048t0002g0182 a0022c0033t0001g0108 a0022c0033t0001g0109 a0025c0046t0001g0126 a0025c0046t0001g0129 a0031c0032t0001g0001 a0032c0094t0004g0046 a0035c0055t0001g0096 a0048c0085t0002g0073 a0052c0071t0002g0145 a0055c0050t0001g0062	116	268	0.4328	0	c.349 others(6): Show c.3492-4G>A		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	26/37				chr4	TogoVar
DDX60L_chr4_168351735_168485492	168415403	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp2 NA19030.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0083 a0012c0021t0001g0083	1	268	0.0037	0	c.297 others(6): Show c.2979+5G>A		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	22/37				chr4	TogoVar
DDX60L_chr4_168351735_168485492	168415517	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp2 HG02559.hp1 HG02630.hp2 others(1): Show HG02109.hp2 HG02559.hp1 HG02630.hp2 HG03453.hp2	a0017 a0035 a0017 a0035	a0017c0035 a0017c0058 a0035c0055 a0017c0035 a0017c0058 a0035c0055	a0017c0035t0001 a0017c0058t0009 a0035c0055t0001 a0017c0035t0001 a0017c0058t0009 a0035c0055t0001	a0017c0035t0001g0093 a0017c0035t0001g0095 a0017c0058t0009g0266 others(1): Show a0017c0035t0001g0093 a0017c0035t0001g0095 a0017c0058t0009g0266 a0035c0055t0001g0096	4	268	0.0149	0	c.287 others(4): Show c.2870T>C	p.Val others(6): Show p.Val957Ala	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	22/38	3096/6759	2870/5121	957/1706	chr4	TogoVar
DDX60L_chr4_168351735_168485492	168416676	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02630.hp2	a0017 a0017	a0017c0035 a0017c0035	a0017c0035t0001 a0017c0035t0001	a0017c0035t0001g0095 a0017c0035t0001g0095	1	268	0.0037	0	c.272 others(6): Show c.2726+6T>C		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	20/37				chr4	TogoVar
DDX60L_chr4_168351735_168485492	168420386	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG01168.hp2 HG02976.hp1 others(1): Show HG00140.hp1 HG01168.hp2 HG02976.hp1 HG03486.hp2	a0002 a0003 a0010 others(1): Show a0002 a0003 a0010 a0054	a0002c0086 a0003c0012 a0010c0081 others(1): Show a0002c0086 a0003c0012 a0010c0081 a0054c0051	a0002c0086t0002 a0003c0012t0002 a0010c0081t0002 others(1): Show a0002c0086t0002 a0003c0012t0002 a0010c0081t0002 a0054c0051t0002	a0002c0086t0002g0068 a0003c0012t0002g0168 a0010c0081t0002g0249 others(1): Show a0002c0086t0002g0068 a0003c0012t0002g0168 a0010c0081t0002g0249 a0054c0051t0002g0247	4	268	0.0149	0	c.239 others(6): Show c.2395-6A>T		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	17/37				chr4	TogoVar
DDX60L_chr4_168351735_168485492	168427325	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00735.hp1 HG00735.hp2 others(19): Show HG00140.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01255.hp1 HG01346.hp2 HG01516.hp2 HG03239.hp2 HG03654.hp1 HG03831.hp1 HG03927.hp2 HG04199.hp2 HG06807.hp1 NA18612.hp2 NA18954.hp2 NA20752.hp1	a0006 a0009 a0018 others(3): Show a0006 a0009 a0018 a0025 a0040 a0041	a0006c0006 a0006c0036 a0009c0028 others(6): Show a0006c0006 a0006c0036 a0009c0028 a0009c0029 a0018c0045 a0018c0096 a0025c0046 a0040c0095 a0041c0097	a0006c0006t0002 a0006c0006t0003 a0006c0036t0003 others(8): Show a0006c0006t0002 a0006c0006t0003 a0006c0036t0003 a0009c0028t0001 a0009c0029t0001 a0018c0045t0001 a0018c0045t0003 a0018c0096t0001 a0025c0046t0001 a0040c0095t0001 a0041c0097t0003	a0006c0006t0002g0128 a0006c0006t0003g0020 a0006c0006t0003g0021 others(19): Show a0006c0006t0002g0128 a0006c0006t0003g0020 a0006c0006t0003g0021 a0006c0006t0003g0022 a0006c0006t0003g0133 a0006c0006t0003g0138 a0006c0006t0003g0139 a0006c0006t0003g0141 a0006c0036t0003g0132 a0009c0028t0001g0124 a0009c0028t0001g0135 a0009c0028t0001g0137 a0009c0029t0001g0125 a0009c0029t0001g0136 a0009c0029t0001g0140 a0018c0045t0001g0130 a0018c0045t0003g0023 a0018c0096t0001g0127 a0025c0046t0001g0126 a0025c0046t0001g0129 a0040c0095t0001g0131 a0041c0097t0003g0134	22	268	0.0821	0	c.167 others(6): Show c.1678-3C>T		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	13/37				chr4	TogoVar
DDX60L_chr4_168351735_168485492	168453287	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp1 HG01109.hp2 HG02258.hp2 others(3): Show HG00639.hp1 HG01109.hp2 HG02258.hp2 HG02615.hp1 HG02965.hp1 HG03486.hp1	a0002 a0004 a0010 others(1): Show a0002 a0004 a0010 a0015	a0002c0018 a0004c0019 a0010c0044 others(1): Show a0002c0018 a0004c0019 a0010c0044 a0015c0090	a0002c0018t0001 a0002c0018t0002 a0004c0019t0001 others(2): Show a0002c0018t0001 a0002c0018t0002 a0004c0019t0001 a0010c0044t0002 a0015c0090t0001	a0002c0018t0001g0257 a0002c0018t0002g0103 a0004c0019t0001g0253 others(3): Show a0002c0018t0001g0257 a0002c0018t0002g0103 a0004c0019t0001g0253 a0004c0019t0001g0254 a0010c0044t0002g0255 a0015c0090t0001g0238	6	268	0.0224	0	c.838 others(5): Show c.838-5C>T		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37				chr4	TogoVar
DDX60L_chr4_168351735_168485492	168471741	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01123.hp2 HG01884.hp1 HG02572.hp1 others(11): Show HG01123.hp2 HG01884.hp1 HG02572.hp1 HG02622.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03225.hp1 NA18522.hp1	a0002 a0004 a0010 others(3): Show a0002 a0004 a0010 a0020 a0030 a0050	a0002c0004 a0004c0011 a0010c0024 others(3): Show a0002c0004 a0004c0011 a0010c0024 a0020c0023 a0030c0031 a0050c0066	a0002c0004t0002 a0004c0011t0001 a0004c0011t0005 others(5): Show a0002c0004t0002 a0004c0011t0001 a0004c0011t0005 a0010c0024t0002 a0010c0024t0011 a0020c0023t0001 a0030c0031t0004 a0050c0066t0001	a0002c0004t0002g0076 a0004c0011t0001g0112 a0004c0011t0001g0121 others(11): Show a0002c0004t0002g0076 a0004c0011t0001g0112 a0004c0011t0001g0121 a0004c0011t0001g0122 a0004c0011t0001g0161 a0004c0011t0005g0118 a0010c0024t0002g0119 a0010c0024t0002g0120 a0010c0024t0011g0263 a0020c0023t0001g0075 a0020c0023t0001g0077 a0020c0023t0001g0078 a0030c0031t0004g0117 a0050c0066t0001g0123	14	268	0.0522	0	c.264 others(5): Show c.264+6A>G		DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	4/37				chr4	TogoVar
DDX60_chr4_168211294_168323752	168221884	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00735.hp1 HG01081.hp2 others(5): Show HG00099.hp1 HG00735.hp1 HG01081.hp2 HG01175.hp1 HG01346.hp1 HG03490.hp2 HG03492.hp1 NA20905.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0059 a0004c0005t0001g0133 a0004c0005t0001g0134 others(5): Show a0004c0005t0001g0059 a0004c0005t0001g0133 a0004c0005t0001g0134 a0004c0005t0001g0135 a0004c0005t0001g0136 a0004c0005t0001g0137 a0004c0005t0001g0138 a0004c0005t0001g0139	8	270	0.0296	0	c.482 others(6): Show c.4825-3C>T		DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	35/37				chr4	TogoVar
DDX60_chr4_168211294_168323752	168250947	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00735.hp1 HG01081.hp2 others(13): Show HG00099.hp1 HG00735.hp1 HG01081.hp2 HG01175.hp1 HG01346.hp1 HG01884.hp2 HG02622.hp1 HG02818.hp2 HG03041.hp2 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03579.hp1 NA18522.hp2 NA19240.hp2 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0012	a0001c0012 a0001c0013 a0002c0023 others(3): Show a0001c0012 a0001c0013 a0002c0023 a0004c0005 a0006c0017 a0012c0025	a0001c0012t0001 a0001c0012t0004 a0001c0013t0001 others(4): Show a0001c0012t0001 a0001c0012t0004 a0001c0013t0001 a0002c0023t0001 a0004c0005t0001 a0006c0017t0001 a0012c0025t0001	a0001c0012t0001g0205 a0001c0012t0001g0221 a0001c0012t0004g0206 others(13): Show a0001c0012t0001g0205 a0001c0012t0001g0221 a0001c0012t0004g0206 a0001c0013t0001g0202 a0002c0023t0001g0185 a0004c0005t0001g0059 a0004c0005t0001g0133 a0004c0005t0001g0134 a0004c0005t0001g0135 a0004c0005t0001g0136 a0004c0005t0001g0137 a0004c0005t0001g0138 a0004c0005t0001g0139 a0006c0017t0001g0210 a0006c0017t0001g0211 a0012c0025t0001g0129	16	270	0.0593	0	c.385 others(6): Show c.3858+7G>A		DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	28/37				chr4	TogoVar
DDX60_chr4_168211294_168323752	168251112	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02258.hp1 HG02486.hp1 others(11): Show HG02109.hp1 HG02258.hp1 HG02486.hp1 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03540.hp2 HG03579.hp2 HG03688.hp1 NA19240.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0012	a0001c0008 a0001c0009 a0001c0013 others(3): Show a0001c0008 a0001c0009 a0001c0013 a0002c0024 a0008c0018 a0012c0025	a0001c0008t0001 a0001c0009t0001 a0001c0013t0001 others(3): Show a0001c0008t0001 a0001c0009t0001 a0001c0013t0001 a0002c0024t0001 a0008c0018t0001 a0012c0025t0001	a0001c0008t0001g0032 a0001c0008t0001g0038 a0001c0008t0001g0146 others(11): Show a0001c0008t0001g0032 a0001c0008t0001g0038 a0001c0008t0001g0146 a0001c0008t0001g0266 a0001c0008t0001g0267 a0001c0009t0001g0258 a0001c0009t0001g0259 a0001c0009t0001g0261 a0001c0009t0001g0262 a0001c0013t0001g0202 a0002c0024t0001g0128 a0008c0018t0001g0263 a0008c0018t0001g0264 a0012c0025t0001g0129	14	270	0.0519	0	c.370 others(6): Show c.3706-6T>C		DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	27/37				chr4	TogoVar
DDX60_chr4_168211294_168323752	168255877	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02886.hp1 HG02886.hp1	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0001 a0005c0022t0001	a0005c0022t0001g0141 a0005c0022t0001g0141	1	270	0.0037	0	c.339 others(6): Show c.3399-8A>G		DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	25/37				chr4	TogoVar
DDX6_chr11_118742763_118796164	118765202	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0101 a0001c0001t0101	a0001c0001t0101g0107 a0001c0001t0101g0107	1	370	0.0027	0	c.646 others(5): Show c.646+7A>G		DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	6/13				chr11	TogoVar
DECR1_chr8_89996477_90058633	90044993	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18990.hp2 NA18990.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0003	1	378	0.0027	0	c.883 others(3): Show c.883G>A	p.Ala others(6): Show p.Ala295Thr	DECR1	ENSG00000104325.7	transcript	ENST00000220764.7	protein_coding	8/10	899/2760	883/1008	295/335	chr8	TogoVar
DECR1_chr8_89996477_90058633	90045001	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	378	0.0027	0	c.885 others(5): Show c.885+6C>T		DECR1	ENSG00000104325.7	transcript	ENST00000220764.7	protein_coding	8/9				chr8	TogoVar
DEDD2_chr19_42193598_42222677	42216676	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0028 a0001c0002t0001g0028	2	252	0.0079	0	c.328 others(5): Show c.328+4C>G		DEDD2	ENSG00000160570.14	transcript	ENST00000596251.6	protein_coding	2/4				chr19	TogoVar
DEDD_chr1_161115974_161137667	161122526	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	338	0.0030	0	c.581 others(5): Show c.581-3C>T		DEDD	ENSG00000158796.17	transcript	ENST00000368006.8	protein_coding	5/5				chr1	TogoVar
DEF6_chr6_35292818_35326771	35318003	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02145.hp2 HG06807.hp2 HG02109.hp1 HG02145.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114	3	326	0.0092	0	c.916 others(5): Show c.916+4A>G		DEF6	ENSG00000023892.12	transcript	ENST00000316637.7	protein_coding	6/10				chr6	TogoVar
DEF8_chr16_89943755_89973060	89955161	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG01175.hp2 HG02015.hp1 others(39): Show HG00438.hp2 HG01175.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02809.hp1 HG02896.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp2 NA18612.hp2 NA18940.hp2 NA18943.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18967.hp1 NA18968.hp1 NA18971.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA19058.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19087.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0016 a0001c0001t0019	a0001c0001t0001g0010 a0001c0001t0001g0094 a0001c0001t0001g0155 others(16): Show a0001c0001t0001g0010 a0001c0001t0001g0094 a0001c0001t0001g0155 a0001c0001t0001g0180 a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0093 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0010g0027 a0001c0001t0010g0079 a0001c0001t0010g0080 a0001c0001t0016g0182 a0001c0001t0016g0186 a0001c0001t0019g0177	42	392	0.1071	0	c.125 others(5): Show c.125-8T>C		DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	3/12				chr16	TogoVar
DEFA1B_chr8_6991766_7004198	6998056	CACTTTTT others(6135): Show CACTTTTTAACATTCCAAAAAGAATAGAAATTGCACTTTGATTCAACAGG CTCAGGGAACAAATGCTTCTTATTTTCTGAAGATGGGTCCTGCTGTTCTC TGGAGGTCTAGATTCTGGTGTCCTATATGAGTTCCAATGGAATAGCGAGT AATTCACTTCAGGATTCAGGTGACTTACCATCCTCATGAAGAGGTTTTTG AGGTTATGGGGTGAGTAGTCTCCTGTAGGAATCAGGGTGGAGAGGACAAT GATTTTATCAGGCTAAAGGTGAAATCAGCTCAGTGACACAGAGTGGTTTA AGTAAAAAAAAGAAAGTTTATTATTTCCACCTCTACTTAGACTTGAGTAA CAATTAACAATTGTATATTTATAGTGTACACTACCTCATGATTTTATATA TGTATGTATTTAAATCTTTATCTCACACCATGTAGAAACATCAACTCAGA ATGAATTGAAAACCTAAATGTAACAACTGAAACCATAAACTACTAGAAGT GTATAGAAGGATAAAGCTTTTGACATTGATGTAGGTAATGATTTCTTGGC TATGACACCAAAGGCACAGGCAATAAAAGGGAAAATAGACAAGTGTGGCT TCATTTAACGCTAAAGCATCTGCACAGCAAAGGAAACAATCAACCGAGTG AAAAGATAACCCAGAAAATGAGAGAAAATATTTGCAAAACCTACATGGCC GAAGGGGCAAATATCTGAATACATAAGGAATTCCAACAACTCAATAGCAA AAATCAAACAACCTGATTGAAAAACAGACCAAGGACCTAAATAGGTTTCT CTCAAAAGAATGTTCCAAAGACCTGTGATAGTCTCTACTGGACATGTCAA CCAGGACATGTGTGTTTAGAAGGAAACTGCTTGAGTTTCTCTATTAAGTT AGCTGGAAGCCATCGTCCCCAGCAGTCACCAGAGGTCCGGACAGACGTTC CTAGCAGGGATTCGCCCGCTGGTTCCCTCTGGGGTGGCCCCACAGTCAGA GGTCAGATTGGAGGCATAGCTTCAATAATGAAAACTCAGTGTAAAGTTTA AGTTTTGTAGTACTTACAGATCCTCTAGCTAGGCAGGGTGACCAGAGAGG GCAGACAGCAGTCCTCTGTCCCAGGTCTTCTATAGCAAGGAGCAGCCGTG CACAAGTGGACTTCCCCTATTTAAAGGTCTTTTGGGATGAGGTGTCCTAA TTTCCGGGGTTACTTTCTGTTGGGTCCATTAAATAATTGTGGTGGCAAGG ACAGTTGAGAAATTTGGTGGGAAGGTGAGGTTAAAGTAGAACTCCACAGA GGAACCTCTCATCTACCTTGGTCAGCCCTGGCCAGGCCCAGGCAGCAACC AACTATGGATTCTCAATGGCTCCTAACACAGTTGACCCTGTGATGCATTG GCTGTGGCTAAGCTGAACTACCTGCACCAAGGGAATATTTAAAGCCTCTG GGACAGCCTGGCTGCGTATCATAGTATACACCCTGCAAAGAGATTGGGAT AGGAATGCCACCTACACACAGAGGAGGATTTGGAATGTGTTTCTAAAGCA GTGTCCCGAGGACCTGGGGTCTAACCATAAAAAGCAATGAAAGCCATTTG GCTGAGCTGGGATGTTGGAGAACACCCAGGTGAGAATGAGTGCTACCTGG GCTTCTGTTGCTATGTGGAACAGACATTTTTGGGTTCTCCTGAGTACTGG ATGTACACGCGGCATGTGGTTCCCCAGAGGTGACTATCACCTGTTTGCTT GGCCAATGAACAGTTTAAGCTTAAACAATTGTCTAGGATCATCTGGGCCA AGAACTGGTCTGAGGCATTAGCCATCAGGGTGGGAGTGGCCTTTCCAGAT GGCCACCCAAGAAAGGAGGTGGGAGTCTGGGCATTCACTTTACTGCTGGT GTTGCACAGCCTCTCAGGCCTTGTGGGCCTTCAGAGAAGCATTCAGCAAA AGCTTGAGTGGTGCTTTCTGGGAGGCATAGGAGTTTCCATCCTTCACTGG TACACATCGGAGAACAGGTGTATCCCTGAGCCCATGATCATGTCTGGATG CTTTCTGTGAATGCAATGCTCCAACTCTTCAGGCTGCAGTCTGGGTGTGT GCTGCGGCGTCATGAGCCCATTTGGATTGAAGCCTGTGCATCCAGAGAAC TACCTCCTCATCCTTAAAACACGATCTGTGGTTGTGAGGGCTGCTGGTGT TTAAGCATTGGTGCCATGGGACCCATTCAATATCTAAGGGTTGAGTTGCC CGCCTTGGACACAGGTCAGGTTGTATCTGGGGTGCAGCCCCTGTAACAGG GCTTACAGGGAATTCCCCAGTTTTCCAGTCTGGGGTACAAATTCTGACTA GGGCTGTCCTGTTCCAGCAGCCCTCTAGGCTGCCAGGCCTGGGTTAAACA GCTACCCCACAAGCCATTTGTACATAAGATACCAAGCAAGGCCAATCATA GAGAACACTGACATCTTGTCACTCAGGGCTTTCTTCCCAGTGCTTCTATA TTGACACTGATGATGGGGTTGGCTGGCACCCACTTTTCCTTGGAGCCTTT CTCCCCCATGGCCACGTTTGGTGATGGCACTTCCATATGGTCTTTGCCTG ACGTAGTTGGTGTCTCTAGTTTGAAGGCTTCTTCTCCTCGTTACTGCCTC TGACTGCACCCTCGGTGGGTTCTGGAGCAATAATCCCTACTTCCTGCCAG GAGAAGTAAGTGGGAAATATTAGCTAACCTTTAAAACCGGTAAAAAAGGG AGCTTTTGCCAGAAGCTGCATGTGAAATGGAGAGGTGTGGTCTAACAAAA GCCTCGTGGTCCTGCTGGGTGCCAGTGGGCCTGGGGGGTTATCCTCAGAA GATCGTAGTTTACTATCCATCCACAGTCCATTGTTCAGTATATGTTTGAT GTTGAGATGGTGGATGTCCTGTGATGATATGGGGAGGTCTCATTATTGGA GAACATGTAAATGATGTTATCTGTAAGGGAAAAAAGAAGCTAACTCTTCT GTGATCACCAAGATAGGCACCAAAGTGCGTCTAGCCCAATTGTGATGAGG CAGTGGTGGCCATGGGATTGAGAGTTAAAAAAGTGACGGCCCTTGGAAGG ACCTTGGTGCCTTGGGTGTCCATAGCACATCCAGAGACATTAATAACCAT GACTTTAGGAGGCCACCGTGCTGCTTGAGGAGGCTGGTGGCTTGGGGACG ATGGACTAAATGAGACTCCCTTAACCCACCCTCGTGTTGTGATGTCCTGA GGTGGGAGCCTCCATCTGAATCAATGATAGGTGTGGTTCTAAAGGAGATA GTGAAGAAATGCCACGTAAAGAGAACACCTGCTCCACGCAGGGCATAAGG AGCTACGGTCCCTGGAAGACTACATGTGCAGAAGCTCATAGTTAGGACAG GTGTGCTTTGTCCAGAGGCTCTGAGACTTATGATGGGTGGTAGTGAGGGC CTCCCCATGAAACTCAGAACCCGGGACCCGGGCATGGACTAGAGAGATCA CCTGCTGGACCAGCAACAGACTGTATCCTGCTGTGGCCCCAGTGGATGTG AAGGGCTTCTGGGTGATGGCATTTGTGGGCCTCAGCAGAATGGACAAGTG GGGTATAGCTGTCTCCAAAGACACGATGTCCCAGTACATGGAGGGCCAGC TGCAAAGTGGCTAGGACACTAGTGGTGAGGATTTGGTTTTTAACTGCAAG GGGACTTTGTCAGCCCACTGATGACAAATTGATGCCCAGAATCTTTACAA CAGTGCTGGAGGGGCCATGAGTGTGTCCTCCAGAAACGTGGCCACTGTCC AGGAAGAGGGAGAGCGGGTGCAGCAGCTCTGCCCATATGTCCTGGCCCAG GCGGTGGCTTTACATGCAGCACCCAGAGCGATTTGGGGAGCTGAGGGAGA ACAGAGACCCTCCAGCTGGCTCAGAGTCACTGGTGGCTCCTGTCCCTGGA GGGGTGGCCTTCTCTGCCCCAACCCAGTCTTGTGCTCTCCTTCCCTGCCA TTCTTGGCTGCAGGACTGGGAACCATCTGCTGGGACGTTGCTCTGTGTCT CCCTCATGGCCATGCTCCCATCTTTGCCTCCTCCATAGACTGCGGTCAGG ACTCAGCAGCCCAGAGCCCCAGCAGGGTCTCAGTCTGTACTGAGGTCACA CCTAGGCATTGTCGCCATCCTTCGGCAGGTGATTCTCAAACTCCAAACTC AAATTAGAACAGAGAGATTCTTCCCTGTGGTCCTTTTCACTTTTCTCTTT TGGCTGCACCAGAACCTTGGCAGAATTTTGTGGTTTAAACAAAAAAGGTG TTATGTCTACAGATTTTTTACAGTACTTTCACTTCCATGTTGATCCATAG TCCCCAACCCCAGCCTGATGTTTTCCACTGATTGCAGCCAGTGTAGACAA TCAGTGTCCACACTGTGGACACTATATGTAGATGCAGCTGAAGCTGTTTT TTTCAGACACACGCATTTGAATTTTAGGGAATATTGAAGCGAGTCTAGAC TCAATAAAAACCTTGACATCATTAGGCTGGGGTAAACATTCTGGAGAAGC TGTGGGTGGGGTTGTAGGTGTGAGAGGAGAGAAGCTTCCAGGAGCAGCAC ACATATTCTCACACATGTTTATGGTGTCTGGTGGCCCCAGCAGACACAGT GTGTGTGGACCTTGGGCGGGGCCCTGGGGTTATGGTTTTGACCCGGTAGG AAAGGGTAGTCATGGAACACAGCATGCGTGTTACCATGGGGCGCAGCGGG GGCTACGCAGAGGTGAGCTCTGAGGAGGACCCTCCACCTCCCAGCTCCTC AGAGTGCATCGCGCTGTCCCTCCCCTCAGCCCTTTGTCCACTGTCCTGCA GGGAGGGTCCTGGTGCTGCCTGTGCCACACAGTCACTCCCGGGCCTGCAG ATCCAGCTGGGACAGGTAGGAGCTCCAAGTCCCTGCCCTTTGTCTGCCTT TCCCAGCCGCCTCTCACAAGCTGTCTGTGTGTCTGGTGTTGAGGATTGCA GCAGGTTTATTTTACAATAAACCATAAGGAAATAGCTTCCTTGAGCTGTT TTAAAATATGGCCCTAAATCCCTGACTCTTTTCACATAAAAATGGAGGTG AAAATGGCTCCTGTTGAATCTAGATTGGGCGACATCTTGACCAGTTGAAC ACACCTGACTTAGCACCGTGCTGTTTGTTGGGCTAAGGTCATAAGAAGTT GGTATCTTTCACTTCCTGAGTATTGGATGGTGCTGCAGCCTGAATGTTTT TGTCCCTCTGAAATTCATATGTTGAAATCCCTCCTCTGGTGACAGCATGA AAAGGTGGGGCTTTCTGGGAAGTGATATGTTCAGGAGGATGGAGTCCTCA TGAGTTGCATTAGTGCCCCTGAGGAAGAAGCCCCAGAGAGCTCCTTCATT CATTCCCTCAGGTGAGGAAGCAGTGAGAAGGTAGCATCTATGAACCAAAA AGCTGGTCCTCACCACACACCAAATCTGTTGGCACCTTGATTTGGACATC TCAGCCTCCAGAACACTGAGAAATGTATTTTTGTTGTTTATAAGTCACTT GGTGTATGATTTTCTTTCCCCCAGCATCCCACATATACTAAGAGTGCTGG TGCCTTTGAAGCCCAGCTACAATGCTTGGAGGAAGTCTAAGCATTGCAAA AAAAGGAACTGAACCCACCTGCAAGGAAGAGCTAGAGAACCCAGAGCAAC CAGCTTTCTAGGAAAAACAAAACTCTGATATGCAGTGTTTGTAAATCTCT CTGGTTCAAATCCTCCTAGCTATGAGTGGGATAAAAAGTGTCACACCTAT CTTTTCTCTCATGAGCTGGCATGACCTGGCCTCAGTGCATCACAGTATCT CATCCCTCAGCCTGTCAGAGCTCCCACTGAGCCAGCCCAGCACTCCCCGC TACCTGTGCGCAAGCGTCTTGGCCCTGAGGTTTTCAGCTCCCAGCAGAAC CTGTCCTCTGTTGCCCATGGAGGGGGCTATGTCCCAATTGCAAATGTGTG AATGACGACCTGATCGTGCTGTTTTAATTCCCTAAGTTTTGTGGTGTCTT TTCACACAGCCCTAGATGAACAGAGGGCATTTTCACAGTATTGCTGAGGA ATTGGATTTGTACATATTTTGTGTGTGTAAATCTCAACTTCTC	C C	splice_donor_variant others(4): Show splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG02258.hp1 HG02622.hp2 HG02258.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0029	2	398	0.0050	-6142	c.-50 others(13): Show c.-5088_-12-294del		DEFA1B	ENSG00000240247.8	transcript	ENST00000382689.8	protein_coding	1/3				chr8	TogoVar
DEFA4_chr8_6930820_6943306	6936918	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0038 a0001c0002t0001g0038	1	486	0.0021	0	c.-12 others(5): Show c.-12-7C>T		DEFA4	ENSG00000164821.5	transcript	ENST00000297435.3	protein_coding	1/2				chr8	TogoVar
DEFA6_chr8_6919697_6931076	6924931	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	472	0.0021	0	c.194 others(5): Show c.194-4C>G		DEFA6	ENSG00000164822.5	transcript	ENST00000297436.3	protein_coding	1/1				chr8	TogoVar
DEFB105B_chr8_7482679_7494593	7488177	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0002 a0004c0003t0002	a0004c0003t0002g0003 a0004c0003t0002g0003	1	136	0.0074	0	c.112 others(3): Show c.112G>A	p.Gly others(5): Show p.Gly38Ser	DEFB105B	ENSG00000186599.8	transcript	ENST00000335510.7	protein_coding	2/3	154/321	112/237	38/78	chr8	TogoVar
DEFB106A_chr8_7820139_7834053	7828801	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(53): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00423.hp1 HG00609.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01358.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02559.hp1 HG02615.hp2 HG02698.hp2 HG02896.hp1 HG02976.hp1 HG03017.hp1 HG03491.hp2 HG03710.hp1 NA18522.hp1 NA18747.hp1 NA18943.hp1 NA18946.hp2 NA18951.hp2 NA18957.hp2 NA18968.hp1 NA18978.hp1 NA18978.hp2 NA18981.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19066.hp1 NA19066.hp2 NA19080.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040	56	160	0.3500	0	c.50- others(4): Show c.50-4G>A		DEFB106A	ENSG00000186579.3	transcript	ENST00000335186.3	protein_coding	1/1				chr8	TogoVar
DEFB106B_chr8_7477504_7491400	7482756	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG01074.hp1 HG01109.hp1 others(44): Show HG00544.hp1 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG02056.hp1 HG02257.hp2 HG02300.hp1 HG02523.hp1 HG02615.hp1 HG02615.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp1 HG03225.hp1 HG03225.hp2 HG03710.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp2 NA18959.hp2 NA18961.hp2 NA18969.hp1 NA18975.hp2 NA18985.hp1 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA19005.hp2 NA19006.hp2 NA19064.hp1 NA19066.hp2 NA19077.hp1 NA19082.hp1 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0005t0001 a0002c0003t0001 a0001c0001t0001 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0005t0001g0065 a0002c0003t0001g0017	47	180	0.2611	0	c.50- others(4): Show c.50-4G>A		DEFB106B	ENSG00000187082.2	transcript	ENST00000335479.2	protein_coding	1/1				chr8	TogoVar
DEFB109B_chr8_7307722_7325096	7319748	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00597.hp2 HG00609.hp2 HG02074.hp2 others(9): Show HG00597.hp2 HG00609.hp2 HG02074.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 NA18747.hp2 NA18967.hp2 NA18984.hp2 NA19054.hp2 NA19066.hp2 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0008 others(3): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0008 a0002c0002t0001g0014 a0002c0002t0001g0051 a0002c0002t0001g0053	12	377	0.0318	0	c.61A others(2): Show c.61A>G	p.Arg others(5): Show p.Arg21Gly	DEFB109B	ENSG00000206034.2	transcript	ENST00000382656.2	protein_coding	2/2	185/533	61/264	21/87	chr8	TogoVar
DEFB110_chr6_50013843_50026994	50019131	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	386	0.0026	0	c.56- others(4): Show c.56-6T>C		DEFB110	ENSG00000203970.4	transcript	ENST00000371148.3	protein_coding	1/1				chr6	TogoVar
DEFB114_chr6_49955249_49969164	49960450	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	400	0.0025	0	c.56- others(4): Show c.56-4G>A		DEFB114	ENSG00000177684.4	transcript	ENST00000322066.4	protein_coding	1/1				chr6	TogoVar
DEFB114_chr6_49955249_49969164	49960454	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	400	0.0025	0	c.56- others(4): Show c.56-8T>A		DEFB114	ENSG00000177684.4	transcript	ENST00000322066.4	protein_coding	1/1				chr6	TogoVar
DEFB121_chr20_31399845_31411215	31406088	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18970.hp2 NA19062.hp2 NA18970.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	372	0.0054	0	c.58+ others(4): Show c.58+7A>G		DEFB121	ENSG00000204548.4	transcript	ENST00000376314.3	protein_coding	1/1				chr20	TogoVar
DEFB124_chr20_31460471_31480127	31474620	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	362	0.0028	0	c.-26 others(5): Show c.-26+7A>T		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	1/2				chr20	TogoVar
DEFB127_chr20_152454_164163	158768	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00423.hp1 HG00544.hp2 others(157): Show HG00099.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18970.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20300.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 others(1): Show a0002c0002t0002 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0010 others(8): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0010 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0008g0010 a0002c0002t0009g0002 a0002c0002t0010g0002	160	450	0.3556	0	c.50- others(4): Show c.50-6G>A		DEFB127	ENSG00000088782.5	transcript	ENST00000382388.4	protein_coding	1/1				chr20	TogoVar
DEFB129_chr20_222258_234886	229884	A A	T T	splice_region_variant splice_region_variant	LOW	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	450	0.0022	0	c.11 others(4): Show c.113A>T		DEFB129	ENSG00000125903.4	transcript	ENST00000246105.4	protein_coding	2/2				chr20	TogoVar
DEFB134_chr8_11988174_12005752	11993176	C C	G G	splice_region_variant splice_region_variant	LOW	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(162): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18950.hp2 NA18960.hp2 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA19006.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0015 a0001c0001t0020 a0001c0002t0007 a0001c0002t0010 a0001c0002t0017 a0001c0002t0019	a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0009 others(83): Show a0001c0001t0003g0003 a0001c0001t0003g0004 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0022 a0001c0001t0003g0032 a0001c0001t0003g0035 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0061 a0001c0001t0003g0067 a0001c0001t0003g0074 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0131 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0004g0017 a0001c0001t0004g0021 a0001c0001t0004g0034 a0001c0001t0004g0036 a0001c0001t0004g0044 a0001c0001t0004g0051 a0001c0001t0004g0072 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0130 a0001c0001t0004g0136 a0001c0001t0004g0140 a0001c0001t0005g0008 a0001c0001t0005g0066 a0001c0001t0005g0075 a0001c0001t0005g0113 a0001c0001t0005g0120 a0001c0001t0005g0123 a0001c0001t0005g0135 a0001c0001t0006g0013 a0001c0001t0006g0147 a0001c0001t0006g0148 a0001c0001t0006g0149 a0001c0001t0006g0150 a0001c0001t0006g0152 a0001c0001t0006g0153 a0001c0001t0006g0155 a0001c0001t0014g0037 a0001c0001t0015g0133 a0001c0001t0020g0151 a0001c0002t0007g0031 a0001c0002t0007g0064 a0001c0002t0007g0065 a0001c0002t0007g0079 a0001c0002t0007g0124 a0001c0002t0007g0125 a0001c0002t0007g0134 a0001c0002t0010g0016 a0001c0002t0010g0129 a0001c0002t0017g0119 a0001c0002t0019g0154	165	448	0.3683	0	c.80 others(4): Show c.804G>C		DEFB134	ENSG00000205882.9	transcript	ENST00000382205.6	protein_coding	3/3				chr8	TogoVar
DEFB1_chr8_6865592_6882936	6870594	T T	C C	splice_region_variant splice_region_variant	LOW	HG01243.hp1 HG01258.hp2 HG01516.hp1 others(44): Show HG01243.hp1 HG01258.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG02015.hp2 HG02572.hp1 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18950.hp1 NA18954.hp2 NA18959.hp2 NA18988.hp1 NA18995.hp1 NA18999.hp2 NA19011.hp1 NA19030.hp2 NA19062.hp1 NA19076.hp2 NA19085.hp1 NA19091.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0005 a0001c0001t0008 a0001c0004t0007 others(1): Show a0001c0001t0005 a0001c0001t0008 a0001c0004t0007 a0002c0002t0005	a0001c0001t0005g0011 a0001c0001t0005g0028 a0001c0001t0005g0042 others(22): Show a0001c0001t0005g0011 a0001c0001t0005g0028 a0001c0001t0005g0042 a0001c0001t0005g0072 a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0005g0078 a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0008g0036 a0001c0001t0008g0057 a0001c0004t0007g0043 a0001c0004t0007g0088 a0001c0004t0007g0089 a0001c0004t0007g0090 a0002c0002t0005g0009 a0002c0002t0005g0027 a0002c0002t0005g0076 a0002c0002t0005g0082 a0002c0002t0005g0086 a0002c0002t0005g0087	47	478	0.0983	0	c.87 others(3): Show c.87A>G		DEFB1	ENSG00000164825.4	transcript	ENST00000297439.4	protein_coding	2/2				chr8	TogoVar

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